Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.Y936*
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NSD1

NM_022455.5:p.Y936*

Associated Papers

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

Viswanathan A et al.

American Journal of Medical Genetics. Part A, 2025

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

Romero VI et al.

Bmc Genomics, 2022

36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1

Two distinct syndromic children with T-acute lymphoblastic leukemia: Noonan syndrome and Sotos syndrome.

Kaya Z et al.

Leukemia Research, 2022

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."